ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825765593
Gene: DYSF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197004
ClinVar RCV Id:
RCV000658869
RCV000691904
RCV001329091
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001124456.1:p.Gln1310Glu
CA244881
NM_001130984.2:c.3928C>G